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Items: 14


Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.

Kuniyoshi K, Hayashi T, Kameya S, Katagiri S, Mizobuchi K, Tachibana T, Kubota D, Sakuramoto H, Tsunoda K, Fujinami K, Yoshitake K, Iwata T, Nakano T, Kusaka S.

Int J Mol Sci. 2020 Feb 16;21(4). pii: E1331. doi: 10.3390/ijms21041331.


Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy.

Hayashi T, Katagiri S, Mizobuchi K, Yoshitake K, Kameya S, Matsuura T, Iwata T, Nakano T.

Ophthalmic Genet. 2020 Feb;41(1):93-95. doi: 10.1080/13816810.2020.1723119. Epub 2020 Feb 10. No abstract available.


Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.

Katagiri S, Hosono K, Hayashi T, Murai N, Wake E, Miyata I, Mizobuchi K, Kurata K, Matsuura T, Nakano T, Hotta Y.

Doc Ophthalmol. 2020 Jan 29. doi: 10.1007/s10633-020-09752-5. [Epub ahead of print]


Electroretinographic abnormalities associated with pregabalin: a case report.

Ninomiya W, Mizobuchi K, Hayashi T, Okude S, Katagiri S, Kubo A, Masuhara N, Nakano T.

Doc Ophthalmol. 2020 Jan 3. doi: 10.1007/s10633-019-09743-1. [Epub ahead of print]


Mild accidental macular injury induced by picosecond Nd:YAG laser.

Hayashi I, Mizobuchi K, Watanabe A, Nakano T.

Clin Exp Optom. 2019 Dec 4. doi: 10.1111/cxo.13020. [Epub ahead of print] No abstract available.


Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.

Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T.

Sci Rep. 2019 Nov 14;9(1):16851. doi: 10.1038/s41598-019-52660-1.


Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.

Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y.

Doc Ophthalmol. 2020 Apr;140(2):147-157. doi: 10.1007/s10633-019-09727-1. Epub 2019 Oct 3.


X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

Kurata K, Hosono K, Hayashi T, Mizobuchi K, Katagiri S, Miyamichi D, Nishina S, Sato M, Azuma N, Nakano T, Hotta Y.

Int J Mol Sci. 2019 Mar 26;20(6). pii: E1518. doi: 10.3390/ijms20061518.


Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.

Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T.

Doc Ophthalmol. 2019 Jun;138(3):229-239. doi: 10.1007/s10633-019-09679-6. Epub 2019 Mar 15.


Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X).

Mizobuchi K, Katagiri S, Hayashi T, Yoshitake K, Fujinami K, Kuniyoshi K, Mishima R, Tsunoda K, Iwata T, Nakano T.

Am J Ophthalmol Case Rep. 2018 Dec 19;13:110-115. doi: 10.1016/j.ajoc.2018.12.019. eCollection 2019 Mar.


Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y.

Sci Rep. 2018 May 29;8(1):8279. doi: 10.1038/s41598-018-26524-z.


Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y.

Mol Vis. 2018 Apr 9;24:286-296. eCollection 2018.


Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).

Katagiri S, Hayashi T, Mizobuchi K, Yoshitake K, Iwata T, Nakano T.

Ophthalmic Genet. 2018 Jun;39(3):357-365. doi: 10.1080/13816810.2018.1459737. Epub 2018 Apr 9.


ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance.

Katagiri S, Negishi Y, Mizobuchi K, Urashima M, Nakano T, Hayashi T.

J Ophthalmol. 2017;2017:1079687. doi: 10.1155/2017/1079687. Epub 2017 Aug 20.

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